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Lower Limb Edema in Mother and Child
Shweta Anand, Nidhi Gupta, Pramila Verma.
Department of Pediatrics, Chirayu Medical College and Hospital, Bhopal, Madhya Pradesh, India.

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Anand S, Gupta N, Verma P. Lower Limb Edema in Mother and Child. Pediatr Oncall J. 2017;14: 40. doi: 10.7199/ped.oncall.2017.37

Address for Correspondence
Dr. Shweta Anand, Department of Pediatrics, Chirayu Medical College and Hospital, Bhopal, Madhya Pradesh, India.

Email
drsa007@yahoo.com

A 28 year old primigravida with repeating episodes of swollen limbs (Figure 1) and no other associated complaints presented to obstetrics department for consultation. The patient reported her father also had similar lower limb edema. On examination, bilateral edema in the legs was present, with no associated inflammatory signs and no pain to palpation, the remaining examination was normal. Lower limbs venous doppler was normal. The patient was hospitalized and she delivered a female baby of 3.2 kg with similar lower limb edema which was non-pitting. On detailed examination, baby had single umbilical artery (Figure 2). Ultrasonography of abdomen and lower limbs was normal. Colour doppler of lower limbs of the newborn was normal.

What is the diagnosis?

 
Milroy disease is a hereditary lymphedema {type I} with autosomal dominant inheritance which presents at birth but occasionally can develop later in life. {1,2} It is clinically and genetically heterogeneous showing both inter and intra-family variability in the severity of the edema. Milroy disease should be suspected in individuals with lower limb swelling that is usually but not always bilateral and present at birth or develops soon after. In neonates the swelling predominantly affects the dorsum of the feet. With age, the swelling may improve or progress to affect the whole lower leg}. {3} It may be associated with hydrocele {37 percent of males}, prominent veins {23 percent}, upslanting toe nails {14 percent}, papillomatosis {10 percent}, urethral abnormalities in males {4 percent} and in some cases cellulitis {20 percent}. {4} Diagnosis is done by clinical findings and confirmed by molecular genetic testing. Mutations in the FLT4 gene lead to the development of small or absent lymphatic vessels. Lymphoscintigraphy reveals lack of uptake of radioactive colloid in the ilioinguinal lymph nodes caused by a paucity of lymphatic vessels in the lower limbs. {5} Treatment consists of stockings and massage to improve the cosmetic appearance or decrease the size of the limb and reduce the risk of complications. In our patient, lymphangiography and genetic analysis could not be done due to non-availability. The patient was advised fitting stockings and decompressive massage. After one month of treatment, the swelling markedly reduced.
 
Funding: None
 
Conflict of Interest: None

References :
  1. Connell FC, Ostergaard P, Carver C, Brice G, Williams N, Mansour S, et al. Analysis of the Coding Regions of VEGFR3 and VEGFC in Milroy Disease and Other Primary Lymphoedemas. Human Genetics. 2008;124:625-31.  [CrossRef]  [PubMed]
  2. Brouilhard P, Boon L, Vikula M. Genetics of Lymphatic Anomalies. J Clin Invest. 2014;124:898-904.  [CrossRef]  [PubMed]  [PMC free article]
  3. Brice GW, Mansour S, Ostergaard P, Connell F, Jeffery S, Mortimer P, Milroy Disease. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al, eds. GeneReviews(Internet). Seattle (WA): University of Washington, Seattle;1993-2017. 2006 Apr 27 (updated 2014 Sep 25).
  4. Brice G, Child AH, Evans A, Bell R, Mansour S, Burnand K, et al. Milroy disease and the VEGFR-3 mutation phenotype. J Med Genet. 2005;42:98–102.  [CrossRef]  [PubMed]  [PMC free article]
  5. Connell FC, Gordon K, Brice G, Keeley V, Jeffery S, Mortimer PS, et al. The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings. Clin Genet. 2013;84:303–14.  [CrossRef]  [PubMed]

DOI No. :  https://doi.org/10.7199/ped.oncall.2017.37
 
Cite this article as :
Anand S, Gupta N, Verma P. Lower Limb Edema in Mother and Child. Pediatr Oncall J. 2017;14: 40. doi: 10.7199/ped.oncall.2017.37
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